loading...| Preferred Name | Spinal and Bulbar Muscular Atrophy, X-linked 1 | |
| Synonyms |
Spinal and Bulbar Muscular Atrophy, X-linked 1 Kennedy Disease Spinal and Bulbar Muscular Atrophy SBMA SMAX1 |
|
| Definitions |
A rare, slowly progressive degenerative disorder affecting males. It is caused by mutations in the androgen receptor (AR) gene. It is characterized by bulbar and limb muscle weakness and atrophy, and gynecomastia. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85233 |
|
| code |
C85233 |
|
| Concept_In_Subset | ||
| Contributing_Source |
Cellosaurus |
|
| DEFINITION |
A rare, slowly progressive degenerative disorder affecting males. It is caused by mutations in the androgen receptor (AR) gene. It is characterized by bulbar and limb muscle weakness and atrophy, and gynecomastia. |
|
| FULL_SYN |
Spinal and Bulbar Muscular Atrophy, X-linked 1 Kennedy Disease Spinal and Bulbar Muscular Atrophy SBMA SMAX1 |
|
| label |
Spinal and Bulbar Muscular Atrophy, X-linked 1 |
|
| Preferred_Name |
Spinal and Bulbar Muscular Atrophy, X-linked 1 |
|
| prefixIRI |
Thesaurus:C85233 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C1839259 |
|
| subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C197818 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/OMIM_313200 | CCO | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/313200 | OMIM | LOOM | |
| http://identifiers.org/omim/313200 | REXO | LOOM | |
| http://identifiers.org/omim/313200 | GEXO | LOOM | |
| http://identifiers.org/omim/313200 | RETO | LOOM | |
| http://purl.obolibrary.org/obo/NCIT_C85233 | BERO | LOOM |